Because the progression of Fabry disease varies from person to person it also means that symptoms appear at different ages and with differing severity (see also onset of symptoms). It is therefore important to consider the different symptoms and to understand the impact of them at different stages of life. To find out about people’s experiences with Fabry disease, go to the personal stories section.

Infants

Of the many symptoms of Fabry disease, it is often pain and heat-related discomfort that appear first in young children with Fabry disease.1 Parents should therefore be careful not to expose young children with Fabry disease to extremes of temperature.

Children and Adolescents

Signs and symptoms indicative of Fabry disease have been observed in patients aged less than two years.1 with the most frequent early manifestations being episodes of pain and gastrointestinal disturbances (abdominal pain and change in bowel habits). 1, 2

Symptoms occur with similar frequency in boys and girls, but their onset is typically two to five years later in girls.1 Because of the wide range of symptoms, the diagnosis of Fabry disease may be delayed by several years.

As well as episodes of pain and burning sensations in the hands and feet, children and young people with Fabry disease often develop a spotted, dark red skin rash (angiokeratomas) seen most densely between the belly button and the knees; changes in the appearance of the cornea may also develop and be found by an optician during a routine eye examination when using a special piece of equipment.

Parents and teachers should consider the effects of physical exertion, exercise and extremes of temperature on children with Fabry disease.

References

1. Ramaswami U, Whybra C, Parini R, Pintos-Morell G, Mehta A, Sunder-Plassmann G, et al. Clinical manifestations of Fabry disease in children: data from the Fabry Outcome Survey. Acta Paediatrica 2006; 95: 86-92.
2. Ries M, Gupta S, Moore DF, Sachdev V, Quirk JM, Murray GJ, et al. Paediatric Fabry disease. Paediatrics 2005; 115: e344-e355

Adults

Fabry disease is slowly progressive. Symptoms result from damage to the kidneys, heart and central nervous system and usually appear between the ages of 30 to 45.2 In some individuals with Fabry disease it is only when tests are carried out to find the cause of problems with the heart or kidneys that the accumulation of Gb3 is identified and a diagnosis of Fabry disease made. Symptom management can help reduce the effect of symptoms, and lifestyle considerations such as type of employment, choice of leisure activities and diet can all play their part.

References

1. Ramaswami U, et al. Acta Paediatrica 2006; 95: 86-92.
2. Beck M. In: Mehta A, et al (eds). Fabry disease: perspectives from five years of FOS, 2006.